NM_001101426.4(CRPPA):c.466G>A (p.Asp156Asn) AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 7, 2012
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000032811.5

Allele description [Variation Report for NM_001101426.4(CRPPA):c.466G>A (p.Asp156Asn)]

NM_001101426.4(CRPPA):c.466G>A (p.Asp156Asn)

Gene:

CRPPA:CDP-L-ribitol pyrophosphorylase A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p21.2

Genomic location:

Preferred name:

NM_001101426.4(CRPPA):c.466G>A (p.Asp156Asn)

HGVS:

NC_000007.14:g.16406129C>T
NG_032690.2:g.20194G>A
NM_001101417.4:c.466G>A
NM_001101426.4:c.466G>AMANE SELECT
NM_001368197.1:c.466G>A
NP_001094887.1:p.Asp156Asn
NP_001094896.1:p.Asp156Asn
NP_001355126.1:p.Asp156Asn
A4D126:p.Asp156Asn
NC_000007.13:g.16445754C>T
NR_160656.1:n.682G>A

Protein change:

D156N; ASP156ASN

Links:

UniProtKB: A4D126#VAR_069741; OMIM: 614631.0011; dbSNP: rs397514547

NCBI 1000 Genomes Browser:

rs397514547

Molecular consequence:

NM_001101417.4:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001101426.4:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001368197.1:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_160656.1:n.682G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Synonyms:: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
Identifiers:: MONDO: MONDO:0013835; MedGen: C3553330; Orphanet: 899; OMIM: 614643

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000056579	OMIM	no assertion criteria provided	Pathogenic (Dec 7, 2012)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000056579

OMIM

no assertion criteria provided

Pathogenic
(Dec 7, 2012)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.

Vuillaumier-Barrot S, Bouchet-Séraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerrière A, Fallet-Bianco C, Loget P, Odent S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonnière M, Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha K, et al.

Am J Hum Genet. 2012 Dec 7;91(6):1135-43. doi: 10.1016/j.ajhg.2012.10.009.

PubMed [citation]

PMID:: 23217329
PMCID:: PMC3516603

Details of each submission

From OMIM, SCV000056579.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 2 sib fetuses, born of consanguineous parents, with congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7 (MDDGA7; 614643), Vuillaumier-Barrot et al. (2012) identified a homozygous 466G-A transition in exon 2 of the ISPD gene, resulting in an asp156-to-asn (D156N) substitution at a highly conserved residue. The mutation was not found in several large control databases. The fetuses were ascertained due to severe cobblestone lissencephaly.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 9, 2024

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